
pmid: 22317821
To characterize the deletion patterns and its breakpoints in oligozoospermic patients presenting AZFb and AZFc microdeletions and to understand the recombination mechanisms underlying these microdeletions.Case report.Genetics Department of Faculty of Medicine of Porto, Porto, Portugal.Two men with severe oligozoospermia and two men with nonobstructive azoospermia identified as having different AZFb+c deletion patterns via Y chromosome microdeletion analysis.Definition of microdeletions and the fine characterization of the respective breakpoints by sequence-tagged sites (STS) polymerase chain reaction (PCR) and single-nucleotide variant (SNV) PCR.Study of the fine structure of the Y-chromosome and discussion of the putative mechanisms involved in each microdeletion pattern.From the four patients studied, three deletion patterns were identified: IR4/distal-P2 (25%; 1 of 4), P5/proximal-P1 (50%; 2 of 4), and P5/distal-P1 (25%; 1 of 4). Although severe oligozoospermia is normally associated with AZFc, a complete AZFb deletion was found in one case.Analysis of these patients has revealed a new putative region that may be involved in spermatogenesis conservation.
Adult, Male, Recombination, Genetic, Chromosomes, Human, Y, Reproductive Techniques, Assisted, Oligospermia, Middle Aged, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Severity of Illness Index, Chromosome Breakpoints, Fertility, Phenotype, Karyotyping, Humans, Genetic Predisposition to Disease, Chromosome Deletion, Infertility, Male, Sex Chromosome Aberrations, Sequence Tagged Sites
Adult, Male, Recombination, Genetic, Chromosomes, Human, Y, Reproductive Techniques, Assisted, Oligospermia, Middle Aged, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Severity of Illness Index, Chromosome Breakpoints, Fertility, Phenotype, Karyotyping, Humans, Genetic Predisposition to Disease, Chromosome Deletion, Infertility, Male, Sex Chromosome Aberrations, Sequence Tagged Sites
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